| Autor: |
Zhang, Liang, Yu, Lang, Li, Junshuai, Li, Zhihui, Zhao, Xiaodong |
| Předmět: |
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| Zdroj: |
Journal of Clinical Immunology; Aug2023, Vol. 43 Issue 6, p1131-1133, 3p |
| Abstrakt: |
In total, 623 CYBA alleles identified in 311 patients from 268 families have been reviewed; nonsense mutations represent about 8.6% of allelic mutations [[4]]. Here, we describe novel compound heterozygous CYBA mutations (a nonsense mutation (c.7G > T) and a novel de novo microdeletion of 200 kb at 16q24.2-q24.3 in a 19-day-old male neonate who presented with pustular rashes and invasive pulmonary I aspergillosis i and who lacked ROS production by phagocytes. J Results of Sanger sequencing of CYBA demonstrate the presence of a presumed homozygous variant (c.7G > T) of CYBA gene in the neonate; there was a heterozygous mutation in his father, and no mutation (i.e., the wild-type sequence) in his mother. Mutations in CYBA result in the rare autosomal recessive form of CGD (AR-CGD), which accounts for about 5% of all cases [[1]]. [Extracted from the article] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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